PubMed (OMIM) for id: 924974

Year	Number of Results
1975	1
1976	1
1978	1
1981	1
1983	2
1984	2
1985	1
1986	1
1987	3
1989	1
1990	1
1992	1
1994	1
1995	6
1998	1
1999	2
2001	1
2002	2
2003	3
2004	2
2005	2
2024	0

1

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. van Reeuwijk J, et al. J Med Genet. 2005 Dec;42(12):907-12. doi: 10.1136/jmg.2005.031963. Epub 2005 May 13. J Med Genet. 2005. PMID: 15894594 Free PMC article.

2

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.

Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloğlu H. Balci B, et al. Neuromuscul Disord. 2005 Apr;15(4):271-5. doi: 10.1016/j.nmd.2005.01.013. Neuromuscul Disord. 2005. PMID: 15792865

3

Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.

Willer T, Prados B, Falcón-Pérez JM, Renner-Müller I, Przemeck GK, Lommel M, Coloma A, Valero MC, de Angelis MH, Tanner W, Wolf E, Strahl S, Cruces J. Willer T, et al. Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14126-31. doi: 10.1073/pnas.0405899101. Epub 2004 Sep 21. Proc Natl Acad Sci U S A. 2004. PMID: 15383666 Free PMC article.

4

POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, Sakuta R, Mochizuki M, Michele DE, Campbell KP, Nonaka I, Nishino I. Kim DS, et al. Neurology. 2004 Mar 23;62(6):1009-11. doi: 10.1212/01.wnl.0000115386.28769.65. Neurology. 2004. PMID: 15037715

5

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.

Dinçer P, Balci B, Yuva Y, Talim B, Brockington M, Dinçel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerçeker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H. Dinçer P, et al. Neuromuscul Disord. 2003 Dec;13(10):771-8. doi: 10.1016/s0960-8966(03)00161-5. Neuromuscul Disord. 2003. PMID: 14678799

6

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. de Bernabé DB, et al. J Med Genet. 2003 Nov;40(11):845-8. doi: 10.1136/jmg.40.11.845. J Med Genet. 2003. PMID: 14627679 Free PMC article. No abstract available.

7

A new mutation of the fukutin gene in a non-Japanese patient.

Silan F, Yoshioka M, Kobayashi K, Simsek E, Tunc M, Alper M, Cam M, Guven A, Fukuda Y, Kinoshita M, Kocabay K, Toda T. Silan F, et al. Ann Neurol. 2003 Mar;53(3):392-6. doi: 10.1002/ana.10491. Ann Neurol. 2003. PMID: 12601708

8

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Beltrán-Valero de Bernabé D, et al. Am J Hum Genet. 2002 Nov;71(5):1033-43. doi: 10.1086/342975. Epub 2002 Oct 4. Am J Hum Genet. 2002. PMID: 12369018 Free PMC article.

9

De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome.

Karadeniz N, Zenciroğlu A, Gürer YK, Senbil N, Karadeniz Y, Topalŏlu H. Karadeniz N, et al. Am J Med Genet. 2002 Apr 15;109(1):67-9. doi: 10.1002/ajmg.10286. Am J Med Genet. 2002. PMID: 11932995 No abstract available.

10

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE. Cormand B, et al. Neurology. 2001 Apr 24;56(8):1059-69. doi: 10.1212/wnl.56.8.1059. Neurology. 2001. PMID: 11320179

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